Discrepancy between musical ability and language skills in children with Williams syndrome

BackgroundChildren with Williams syndrome (WS) show a marked interest in music, a characteristic often explored in clinical settings. However, the actual musical abilities of patients with WS remain debatable due to some of the relevant data being derived from experimental tasks that require a verbal response, despite the known language impairments in WS. The present study aimed to examine musical ability in children with WS using a newly invented pitch discrimination task with minimal involvement of language and clarify its relationship with language skill.MethodsEleven children with WS participated in the study. We used a novel pitch discrimination task that required minimal language use. Two piano tones were presented sequentially, and children were asked to give a non-verbal response as to whether the second tone was higher than, lower than, or the same as the first tone.ResultsPitch discrimination performance in children with WS was lower than the level predicted for their chronological age (CA), even in the non-verbal task. Pitch discrimination ability and verbal mental age (VMA) were shown to be dissociated, such that children with WS with a lower skill level for language showed an unexpectedly higher level of pitch discrimination ability and vice versa.ConclusionsOur results indicated reduced musical ability with respect to CA in children with WS. The dissociation between musical ability and language skills may indicate unique developmental relationships that differ from those in normal children. These findings provide new evidence to support the importance of assessing actual musical ability in WS prior to implementing interventional music therapy.     

Cerebral and cerebellar MRI volumes in Williams syndrome

Individuals with Williams syndrome (WS) present a set of cognitive, affective and motor symptoms that resemble those of patients with lesions to the cerebellum. Although there is some evidence for overall structural alterations in this brain region in WS, explorations on cerebellar white matter and cerebellar cortex volumes remain rather neglected. We aimed to compare absolute and relative cerebellar volumes, as well as patterns of white matter to cortex volumes in this brain region, between a group of individuals with WS and a group of healthy controls. T1-weighted magnetic resonance images were acquired in 17 individuals with WS and in 15 typically developing individuals. Our results showed that even though individuals from the clinical group had significantly smaller cerebrums (and cerebellums), cerebellar volumes relative to intracranial volumes were significantly enlarged. In addition, while gray matter was relatively spared and white matter disproportionately reduced in the cerebrum in WS, relative cerebellar cortex and white matter volumes were preserved. These findings support the hypothesis that volume alterations in the cerebellum are associated with the cognitive, affective and motor profiles in WS.     

Investigating prosodic ability in Williams syndrome

This paper investigates whether people with Williams syndrome (WS) have prosodic impairments affecting their expression and comprehension of four main uses of intonation. Two adolescent males with WS were assessed using the PEPS‐C battery, which considers prosodic abilities within a psycholinguistic framework, assessing prosodic form and function in both the input and output domains. The performances of the subjects with WS were compared with control data for age and language‐comprehension matched children. The results revealed significant prosodic impairment affecting all areas of the profile. Crucially, however, different profiles of strengths and weaknesses were revealed for the two subjects. The results support the growing view that WS is a heterogeneous population in terms of linguistic abilities.     

Psycholinguistic abilities of children with Williams syndrome

The objective of this study was to investigate the psycholinguistic abilities of children with Williams syndrome (WS) and typically developing children using the Illinois Test of Psycholinguistic Abilities (ITPA). Performance on the ITPA was analysed in a group with WS (N = 20, mean age = 8.5 years, SD = 1.62) and two typically developing groups, matched in mental (MA, N = 20, mean age = 4.92 years, SD = 1.14) and chronological age (CA, N = 19, mean age = 8.35 years, SD = 3.07). Overall, within-group analyses showed that individuals with WS displayed higher scalar scores on the visual reception and visual association subtests. When groups were compared, we observed inferior performance of the WS group on all ITPA subtests when compared with typically developing groups. Moreover, an interaction between reception and group was found, only the WS group demonstrated superior performance on the visual reception subtest when compared to the auditory reception subtest. Evidence from this study offers relevant contributions to the development of educational intervention programs for children with WS.     

Foreshortened dorsal extension of the central sulcus in Williams syndrome

Williams syndrome (WMS) is a genetic condition resulting from a hemideletion on chromosome 7 that causes cognitive impairment, and a variety of growth and physical abnormalities. Little is currently known about brain morphology in WMS, although one recent MRI report suggested that the central sulcus was abnormally short on its dorsal end compared to normal IQ controls. We sought to replicate this finding in a group of 28 persons with WMS in comparison to both an age and sex matched normal IQ control group (n = 22). In addition, we sought to test the specificity of this finding by a further comparison to an IQ matched control group (n = 20). Using high resolution isotropic voxel MRI, the dorsal and ventral extension of the central sulcus was traced and the distance from the interhemispheric and sylvian fissures was measured. The dorsal extension of the central sulcus in both hemispheres was significantly more distant from the interhemispheric fissure in WMS compared to the lower IQ group and to the normal control group (p's < 0.001). There was no significant difference between groups in the ventral end of the central sulcus. These results suggest that the abnormal dorsal end of the central sulcus may be a specific characteristic of WMS not shared with general mental retardation or low IQ.     

Linguistic heterogeneity in Williams syndrome

Williams syndrome (WS) is a rare genetic disorder resulting from a deletion on chromosome 7. A number of studies have shown that individuals with WS have a superior linguistic profile compared to their non‐verbal abilities, however the evidence has been inconclusive, as many studies have disputed such a profile. The vast majority of studies on WS have assumed a single, homogeneous WS linguistic profile in order to support various theoretical viewpoints. The present study investigated the linguistic profiles of 5 individuals with WS on a number of standardized verbal measures and in conversational settings. The results indicated substantially variable performance in all aspects of the verbal domain, which supports the view that WS, linguistically, is a rather heterogeneous condition and this should be taken into consideration when referring to it in theoretical accounts of language acquisition and debates on modularity.     

Effect of musical experience on verbal memory in Williams syndrome: evidence from a novel word learning task

Williams syndrome (WS) is a neurogenetic developmental disorder characterized by an increased affinity for music, deficits in verbal memory, and atypical brain development. Music has been shown to improve verbal memory in typical individuals as well as those with learning difficulties, but no studies have examined this relationship in WS. The aim of our two studies was to examine whether music can enhance verbal memory in individuals with WS. In Study 1, we presented a memory task of eight spoken or sung sentences that described an animal and identified its group name to 38 individuals with WS. Study 2, involving another group of individuals with WS (n = 38), included six spoken or sung sentences that identified an animal group name. In both studies, those who had participated in formal music lessons scored significantly better on the verbal memory task when the sentences were sung than when they were spoken. Those who had not taken formal lessons showed no such benefit. We also found that increased enjoyment of music and heightened emotional reactions to music did not impact performance on the memory task. These compelling findings provide the first evidence that musical experience may enhance verbal memory in individuals with WS and shed more light on the complex relationship between aspects of cognition and altered neurodevelopment in this unique disorder.     

Texture segmentation in Williams syndrome

Williams syndrome (WS) is a developmental disorder in which visuo-spatial cognition is poor relative to verbal ability. At the level of visuo-spatial perception, individuals with WS can perceive both the local and global aspects of an image. However, the manner in which local elements are integrated into a global whole is atypical, with relative strengths in integration by luminance, closure, and alignment compared to shape, orientation and proximity. The present study investigated the manner in which global images are segmented into local parts. Segmentation by seven gestalt principles was investigated: proximity, shape, luminance, orientation, closure, size (and alignment: Experiment 1 only). Participants were presented with uniform texture squares and asked to detect the presence of a discrepant patch (Experiment 1) or to identify the form of a discrepant patch as a capital E or H (Experiment 2). In Experiment 1, the pattern and level of performance of the WS group did not differ from that of typically developing controls, and was commensurate with the general level of non-verbal ability observed in WS. These results were replicated in Experiment 2, with the exception of segmentation by proximity, where individuals with WS demonstrated superior performance relative to the remaining segmentation types. Overall, the results suggest that, despite some atypical aspects of visuo-spatial perception in WS, the ability to segment a global form into parts is broadly typical in this population. In turn, this informs predictions of brain function in WS, particularly areas V1 and V4.     

Frontostriatal dysfunction during response inhibition in Williams syndrome.

BACKGROUND: Williams syndrome (WS) has provided researchers with an exciting opportunity to understand the complex interplay among genes, neurobiological and cognitive functions. However, despite a well-characterized cognitive and behavioral phenotype, little attention has been paid to the marked deficits in social and behavioral inhibition. Here we explore the neural systems that mediate response inhibition in WS. METHODS: We used functional MRI (fMRI) to obtain blood oxygenation level dependence (BOLD) signal maps during the performance of a Go/NoGo response inhibition task from 11 clinically and genetically diagnosed WS patients and 11 age- and gender-matched typically developing (TD) control subjects. Correlations between behavioral, neuropsychological measures, and BOLD signal were also conducted. RESULTS: Although TD control subjects showed significantly faster response times, no group differences in behavioral accuracy were observed. Compared with control subjects, WS participants demonstrated significantly reduced activity in the striatum, dorsolateral prefrontal, and dorsal anterior cingulate cortices. These findings support the hypothesis that persons with WS fail to activate critical cortical and subcortical structures involved in behavioral inhibition. CONCLUSIONS: Our results provide important evidence for reduced engagement of the frontostriatal circuits in WS and provide putative biological markers for the deficits in response inhibition and the unusual social phenotype.     

Approachability and the amygdala: Insights from Williams syndrome

Williams syndrome (WS) is a genetic neurodevelopmental disorder in which hypersociability is a characteristic feature. Given that the amygdala has been identified as an integral component of the neural system underlying sociability, researchers have suggested that the abnormal amygdala volumes found in individuals with WS may play a role in their hypersociability. The aim of this study was to examine the relationship between amygdala volume and hypersociability, as measured by approachability ratings, in 22 individuals with WS and 22 normal controls matched on chronological age, sex, and handedness. We confirmed previous findings of increased amygdala volumes and higher approachability ratings of both ‘positive’ and ‘negative’ faces in individuals with WS. A positive relationship between right amygdala volume and approachability ratings was found in individuals with WS, particularly ratings of ‘negative’ faces. The results unexpectedly revealed that individuals with WS report using features other than the eyes and mouth to determine approachability, particularly when they are younger. These findings support the theory that amygdala dysfunction in WS is related to their hypersociability. Furthermore, we propose that individuals with WS use atypical cognitive strategies compared to controls to determine approachability.     

Colour discrimination and categorisation in Williams syndrome

Individuals with Williams syndrome (WS) present with impaired functioning of the dorsal visual stream relative to the ventral visual stream. As such, little attention has been given to ventral stream functions in WS. We investigated colour processing, a predominantly ventral stream function, for the first time in nineteen individuals with Williams syndrome. Colour discrimination was assessed using the Farnsworth-Munsell 100 hue test. Colour categorisation was assessed using a match-to-sample test and a colour naming task. A visual search task was also included as a measure of sensitivity to the size of perceptual colour difference. Results showed that individuals with WS have reduced colour discrimination relative to typically developing participants matched for chronological age; performance was commensurate with a typically developing group matched for non-verbal ability. In contrast, categorisation was typical in WS, although there was some evidence that sensitivity to the size of perceptual colour differences was reduced in this group.     

Complex grammar in Williams syndrome

This study investigated knowledge of binding and raising in two groups of children with Williams syndrome (WS), 6–12 and 12–16‐years‐old, compared to typically developing (TD) controls matched on non‐verbal MA, verbal MA, and grammar. In typical development, difficulties interpreting pronouns, but not reflexives, persist until the age of around 6, while raising is not mastered until about the age of 8 or 9. If grammar in WS is delayed, but develops in a fashion parallel to TD population, similar patterns of difficulties may be expected, although it has not been established whether the grammatical development is ever complete in the individuals with this disorder. Knowledge of the principle of binding which states that a reflexive must have a c‐commanding antecedent, was found to be intact in all the participants, in line with previous reports in the literature. In contrast, children with WS younger than 12 showed a poorer performance on personal pronouns, like two groups of younger matched TD controls, suggesting a previously unreported delay in the acquisition of constraints regulating coreferential interpretation of pronouns. Both groups of children with WS showed an extremely limited comprehension of raised, as opposed to unraised structures. The revealed patterns indicate that, like in unimpaired populations, different aspects of grammar mature at distinct stages of language development in WS: reflexive binding is acquired earlier than constraints governing coreference. However, development of raising seems exceptionally delayed, and perhaps even unattainable, as data from several adults with WS studied in Perovic and Wexler () show. If, as hypothesized by Hirsch and Wexler, the late development of raising is related in TD children to lack of maturation of the knowledge of A‐chains or defective phases, it seems reasonable to hypothesize that the even later development of these structures in WS is related to an even later (if ever) maturation of the knowledge of these grammatical forms.     

Spatial representation and attention in toddlers with Williams syndrome and Down syndrome

The nature of the spatial representations that underlie simple visually guided actions early in life was investigated in toddlers with Williams syndrome (WS), Down syndrome (DS), and healthy chronological age- and mental age-matched controls, through the use of a "double-step" saccade paradigm. The experiment tested the hypothesis that, compared to typically developing infants and toddlers, and toddlers with DS, those with WS display a deficit in using spatial representations to guide actions. Levels of sustained attention were also measured within these groups, to establish whether differences in levels of engagement influenced performance on the double-step saccade task. The results showed that toddlers with WS were unable to combine extra-retinal information with retinal information to the same extent as the other groups, and displayed evidence of other deficits in saccade planning, suggesting a greater reliance on sub-cortical mechanisms than the other populations. Results also indicated that their exploration of the visual environment is less developed. The sustained attention task revealed shorter and fewer periods of sustained attention in toddlers with DS, but not those with WS, suggesting that WS performance on the double-step saccade task is not explained by poorer engagement. The findings are also discussed in relation to a possible attention disengagement deficit in WS toddlers. Our study highlights the importance of studying genetic disorders early in development.     

Audiovisual speech perception in Williams syndrome

People with the genetic disorder of Williams syndrome (WS) show an anomalous cognitive profile, wherein some purely verbal and social communicative abilities are relatively proficient, while visuo-spatial skills can be extremely impaired. Face processing, while apparently relatively spared among visuo-spatial skills, can show deficits suggesting developmental immaturity. In this context, the exploration of visual and audiovisual speech perception in WS is of interest. A new test based on tokens from a single natural English speaker of the form /(inverted v)ba:/, /(inverted v) va:/, /(inverted v)(theta)a:/, /(inverted v)da:/ and /(inverted v)ga:/, digitally manipulated and presented in unimodal (vision alone, audition alone) and audiovisual conditions, was presented for participants to identify each token.Compared with age-matched controls, WS participants were impaired at visual but not auditory identification, and in audiovisual testing showed correspondingly reduced effects of vision on report of auditory token identity. Audiovisual integration was nevertheless demonstrable in WS. Speech-reading may require skills which do not reach age-appropriate levels in WS, despite their age-appropriate (auditory) phonological abilities.     

French Williams syndrome's ability to produce judgments of grammaticality

This article reports grammatical judgment data from eighteen French Williams syndrome (WS) (mean CA = 21.10; Mean MA = 11.2). Participants had to detect ungrammatical sentences (13 amongst a set of 26 sentences) in telling whether a given sentence was well said or not. Agrammaticality could be due to errors in tense, person agreement, gender agreement, derivational or inflectional morphology, word order and so on. As a group, WS participants scored as seven-year-olds did, far below CA-controls and MA-controls. Scores did not improve with chronological age or mental age but they were related to total IQ and verbal IQ. They showed an important variability, one similar to what was observed in four-year-olds. Although a few WS individuals had good metasyntactic abilities, these abilities generally plateau in our WS group. They were not deviant, however, as the WS's profile of difficulties across items was qualitatively very similar to the one seen in seven-year-olds.     

Gender attribution and gender agreement in French Williams syndrome

Previous studies on grammatical gender in French individuals with Williams syndrome (WS) have led to conflicting findings and interpretations regarding keys abilities—gender attribution and gender agreement. New production data from a larger WS sample (N = 24) showed that gender attribution scores in WS participants exactly mirrored those of controls: all groups overwhelmingly relied on the masculine as the default gender. WS participants’ agreement scores were far lower than those of CA-controls though not significantly below those of MA-controls. They also did not improve with age, which might suggest a permanent disability in this area.     

Physical and mental health of adults with Williams syndrome

Background : Individuals with Williams syndrome (WS) are reported to experience a range of physical and mental health problems. However, much of this information is derived from children and young adults. Little is known about these issues in older adults. The aims of this study were to (1) examine these issues in adults with WS of a wide age range and (2) examine the long term pattern of these problems. Method : Two groups of adults with WS and their parents/carers were interviewed to examine physical and mental health problems. Study 1 comprised 92 adults with WS (19 years 11 month–55 years 4 months). Study 2 consisted of 47 adults with WS (25 years 7 months–49 years 7 months) who had taken part in a previous study of adults with WS 10 years previously. Results : The studies indicated that high numbers of adults with WS (75%–81%) had physical health problems that impacted upon their everyday life. These included heart, bowel and blood pressure problems (18%–33%). Eating, sleeping and toileting problems were reported in 7%–16% of the sample. Mental health problems were common (25%–33%). There were increases over time in the number of individuals with health problems relating to the heart, bowel and blood pressure and a small decrease in the numbers with joint problems, hernias and dental problems. Overall, there was a decrease in the number of participants with emotional/behavioural problems. Specifically, rates of problems such as anxiety and compulsions decreased, but rates of depression and overactivity increased. Conclusions : Adults with WS have a range of physical and mental problems. While the overall number of individuals with physical health problems remained high over time, the rates of different types of problems changed. Emotional/behavioural problems generally decreased with age.